Abstract
Background Several studies have investigated on the polymorphism Ser680Asn of FSHR and its use as a predictive indicator of response to an IVF/ICSI protocol. Furthermore, measurement of AMH in serum and follicular fluid is a useful prognostic indicator for the outcome of an assisted reproduction attempt. The purpose of this study is to examine the FSH receptor Ser680Asn polymorphism in combination with AMH levels in both serum and follicular fluid, on the day of oocyte collection. Materials and Methods A total of 32 women who underwent IVF/ICSI were included. Women were grouped into 2 groups: those who received rFSH (n = 11) and those who received hMG (n = 21). Serum AMH was measured on day 3 of the cycle, and AMH in the follicular fluid on the day of oocyte retrieval; the same day peripheral blood was collected for the genotyping of Ser680Asn. Results No statistical significant difference was found between serum AMH and follicular fluid AMH regarding the FSH receptor genotype for the Ser680Asn polymorphism. Regarding the sAMH/ffAMH ratio in the 3 genotypes, the value was lower in Asn/Asn women than Ser/Ser and Ser/Asn, but no statistical difference was obtained. Women who carry the Ser allele have a higher number of follicles, retrieved oocytes, and mature oocytes than women who do not contain the Ser allele. Women with AMH < 2.22 ng/ml presented lower AMH follicular fluid levels and lower serum AMH/follicular fluid AMH ratio in a statistically significant manner. Concerning the genotype for the polymorphism Ser680Asn of FSHR in relation to AMH levels, no statistically significant differences were found. Conclusions The identification of polymorphisms, such as Ser680Asn of FSHR, along with the determination of endocrine markers in the follicular fluid, such as AMH, could lead at some point, to the personalized therapy setting per woman.
Highlights
Genetic polymorphism is defined as the occurrence of more than one allele in a genetic locus within a population, and in addition, each allele must occur at a rate of at least 1% of the population [1].Mutations and polymorphisms in the FSH receptor (FSHR) gene could affect the reproductive ability in men and especially in women [2, 3]
The distribution of women according to the genotype for Ser680Asn is as follows: 5/32 (15.6%) women were homozygous for the Ser allele (Ser/Ser), 20/32 (62.5%) women were heterozygous for the polymorphism Ser/Asn, and 7/32 (21.9%) women were homozygous for the Asn allele (Asn/Asn)
It is the first time that the relation of serum AMH and follicular fluid AMH values is evaluated and each of these parameters with the gene polymorphism Ser680Asn of FSHR in women that enrolled in an in vitro fertilization (IVF) program
Summary
Genetic polymorphism is defined as the occurrence of more than one allele in a genetic locus within a population, and in addition, each allele must occur at a rate of at least 1% of the population [1].Mutations and polymorphisms in the FSH receptor (FSHR) gene could affect the reproductive ability in men and especially in women [2, 3]. Of the FSHR gene or others, could provide information on their role on ovarian stimulation and on the selection of the appropriate protocol which would ensure a sufficient number of mature oocytes for IVF/ICSI [7]. The purpose of this study is to examine the FSH receptor Ser680Asn polymorphism in combination with AMH levels in both serum and follicular fluid, on the day of oocyte collection. Serum AMH was measured on day 3 of the cycle, and AMH in the follicular fluid on the day of oocyte retrieval; the same day peripheral blood was collected for the genotyping of Ser680Asn. Results. No statistical significant difference was found between serum AMH and follicular fluid AMH regarding the FSH receptor genotype for the Ser680Asn polymorphism. The identification of polymorphisms, such as Ser680Asn of FSHR, along with the determination of endocrine markers in the follicular fluid, such as AMH, could lead at some point, to the personalized therapy setting per woman
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